Medicine staff make significant contribution to the 100,000 Genomes Project

Published: 7 February 2018

Project sequences the genomes of patients and their families

Members of staff from the Faculty of Medicine are playing a key role in the 100,000 Genomes Project.

This pioneering national initiative, run by the Department of Health and delivered by Genomics England, is sequencing 100,000 whole genomes from about 70,000 NHS patients from across the UK with either certain types of cancer or patients with rare disease, plus their families.

Southampton’s dynamic contribution to the project is run by the Wessex NHS Genomics Medicine Centre (WGMC), based at the University’s WISH Lab, under Professor Tony Williams.

One of many clinical teams taking part in the programme has recently submitted 100 samples from lung cancer patients after recruiting more than 150 participants.

Samples were collected following successful thoracic surgery and taken securely from theatre to Cellular Pathology for rapid sampling by a project pathologist. Once the tumour content was confirmed, DNA was extracted by Molecular Pathology (along with the blood DNA) and then paired samples were sent on to the UK Bio Repository for their whole genome to be sequenced.

The success of Southampton’s lung team is complemented by colleagues recently celebrating the collection of over 100 samples from patients with colorectal cancer. Great progress is being made across the region, with WGMC working with partner hospitals across Wessex to recruit 5000 patients with either a rare disease or cancer.

By looking at data from the 100,000 Genomes Project, scientists will gain new understanding about the causes of disease and find better ways of helping patients, especially those who have conditions that are currently hard to diagnose and manage. When the initial phase of the project ends later this year, it will have put in place everything needed to enable the NHS to offer genomic medicine as an opportunity for transformational, personalised treatment.